Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003891878 | SCV000305789 | benign | PKD1-related condition | 2019-08-29 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
ARUP Laboratories, |
RCV001000002 | SCV000604718 | benign | Polycystic kidney disease, adult type | 2020-01-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001000002 | SCV002797762 | likely benign | Polycystic kidney disease, adult type | 2021-07-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003221886 | SCV003917457 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | PKD1: BP4, BS2 |
Department of Pathology and Laboratory Medicine, |
RCV001353764 | SCV000592817 | benign | Autosomal dominant polycystic kidney disease | no assertion criteria provided | clinical testing | The PKD1 c.8161+8G>A variant was identified in 3 of 550 proband chromosomes (frequency: 0.005) from individuals or families with ADPKD (Rossetti 2002, Rossetti 2012). The variant was also identified in dbSNP (ID: rs199569003) as “NA”. In 1000 Genomes Project the variant is identified in 13 of 5000 chromosomes (frequency: 0.0026); in NHLBI GO Exome Sequencing Project in 46 of 7726 European American (frequency: 0.006) and in 4 of 3742 African American alleles (frequency: 0.001). The variant was identified in the Exome Aggregation Consortium database (March 2016) in 133 (4 homozygous) of 18570 chromosomes (freq. 0.007) in the following populations: Finnish in 5 of 120 chromosomes (freq. 0.04), other in 4 of 168 chromosomes (freq. 0.02), European (Non-Finnish) in 74 of 7230 chromosomes (freq. 0.01), Latino in 6 of 660 chromosomes (freq. 0.009), African in 6 of 1220 chromosomes (freq. 0.005) and South Asian in 38 of 8060 chromosomes (freq. 0.005), but was not seen in the East Asian population, increasing the likelihood this could be a low frequency benign variant. The variant is also identified in GeneInsight COGR (classified as benign) and in ADPKD database 4x as likely neutral. The c.8161+8G>A variant is located in the 5' splice region but does not affect the invariant +1 and +2 positions. In silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign. |